Varaico: Literature-Extracted Genetic Variants

ATIC

251 papers

RefSeq Summary

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransfera...

Pfam Domains

MGSaa 16–130UCSCMGS-like domain

AICARFT_IMPCHasaa 135–461UCSCAICARFT/IMPCHase bienzyme

Gene Aliases

HGNC Name

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

HGNC Alias Symbols

PURH; AICARFT; IMPCHASE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004044.7

p.H470Q

c.1410T>A

Surrounding Variants

2 papers

NM_004044.7

p.H470Q

c.1410T>G

3 papers

NM_004044.7

p.P471S

c.1411C>T

1 paper

NM_004044.7

p.H470Y

c.1408C>T

1 paper

NM_004044.7

p.L467P

c.1400T>C

1 paper

NM_004044.7

p.W465C

c.1395G>C

1 paper

NM_004044.7

p.W465C

c.1395G>T

2 papers

NM_004044.7

p.G481G

c.1443A>G

1 paper

NM_004044.7

p.L457V

c.1369C>G

3 papers

NM_004044.7

p.L457F

c.1369C>T

1 paper

NM_004044.7

p.R456H

c.1367G>A

1 paper

NM_004044.7

p.R456C

c.1366C>T

1 paper

NM_004044.7

p.E486Q

c.1456G>C